title: Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification.
abstract: Pfeiffer syndrome (PS) is an autosomal dominant condition comprising bilateral coronal craniosynostosis, midface hypoplasia with a beaked nasal tip, and broad and medially deviated thumbs and great toes. It is a clinically variable disorder and has been divided into three subtypes [Cohen, 1993: Am J Med Genet 45:300-307]. Type 1 represents the less severe cases, while types 2 and 3 are the more severe cases. These latter types tend to have a higher risk for neurodevelopmental problems and a reduced life expectancy. Here we review the clinical course of seven children with PS type 3. All of these children had severe manifestations of PS; however, development was essentially normal in three, mild delay was noted in two, and moderate delay in one. Favorable outcomes in children with types 2 and 3 PS were also documented by Moore et al. [1995: Cleft Pal-Craniofac J 32:62-70]. These cases illustrate that while children with PS types 2 and 3 have an increased risk for neurodevelopmental difficulties, a favorable outcome can be achieved in some cases with aggressive medical and surgical management. Finally, although such management should be the rule for PS types 2 and 3, it needs to be remembered that normal outcome is not the rule. The prognosis for favorable neurodevelopmental outcome and/or life expectancy remains guarded in most cases.
authors.affiliation: Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA.
authors.forename: N H
authors.initials: NH
authors.lastname: Robin
authors.forename: J A
authors.initials: JA
authors.lastname: Scott
authors.forename: J E
authors.initials: JE
authors.lastname: Arnold
authors.forename: J A
authors.initials: JA
authors.lastname: Goldstein
authors.forename: B B
authors.initials: BB
authors.lastname: Shilling
authors.forename: R W
authors.initials: RW
authors.lastname: Marion
authors.forename: M M
authors.initials: MM
authors.lastname: Cohen
mesh_terms: D000168:Acrocephalosyndactylia / Q000145:classification* / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011379:Prognosis